AutismKB 2.0

Annotation Detail for UBA7


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Basic Information Top
Gene Symbol:UBA7 ( D8,MGC12713,UBA1B,UBE1L,UBE2 )
Gene Full Name: ubiquitin-like modifier activating enzyme 7
Band: 3p21.31
Quick LinksEntrez ID:7318; OMIM: 191325; Uniprot ID:UBA7_HUMAN; ENSEMBL ID: ENSG00000182179; HGNC ID: 12471
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult100 / 193912151
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor7 / 26384526
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia16 / 95842166
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma9 / 71755125
non-neoplasia0 / 972500 
normal101 / 336030730
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood8 / 12347864
bone8 / 71655111
bone marrow17 / 48801348
brain22 / 110098919
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye3 / 21105414
heart1 / 8962611
intestine6 / 23447225
kidney3 / 21177714
larynx2 / 2414582
liver3 / 20774314
lung22 / 33697465
lymph1 / 4427022
lymph node20 / 91610218
mammary gland2 / 15327113
mouth0 / 670520 
muscle2 / 10771518
nerve2 / 15768126
ovary3 / 10205129
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate4 / 18934521
salivary gland0 / 201550 
skin6 / 21057428
spleen3 / 5395255
stomach5 / 9661951
testis8 / 33044224
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 1294_at
Cell line Expression level Expression bar
721_B_lymphoblasts30.8
Adipocyte11.4
AdrenalCortex13.3
Adrenalgland9.85
Amygdala9.9
Appendix11.6
AtrioventricularNode11.45
BDCA4+_DentriticCells48.1
Bonemarrow11.65
BronchialEpithelialCells10.75
CD105+_Endothelial13.45
CD14+_Monocytes44
CD19+_BCells(neg._sel.)90.65
CD33+_Myeloid63.25
CD34+70.5
CD4+_Tcells208.25
CD56+_NKCells84.65
CD71+_EarlyErythroid10.45
CD8+_Tcells219.1
CardiacMyocytes14.2
Caudatenucleus10.3
Cerebellum9.3
CerebellumPeduncles13.35
CiliaryGanglion9.5
CingulateCortex11.95
Colorectaladenocarcinoma11.35
DorsalRootGanglion11.5
FetalThyroid15.9
Fetalbrain11.45
Fetalliver9.75
Fetallung9.75
GlobusPallidus8.75
Heart21.75
Hypothalamus12.75
Kidney10.2
Leukemia_chronicMyelogenousK-56210.5
Leukemia_promyelocytic-HL-6010.05
Leukemialymphoblastic(MOLT-4)18.4
Liver16.25
Lung16.2
Lymphnode22.7
Lymphoma_burkitts(Daudi)14.7
Lymphoma_burkitts(Raji)15.65
MedullaOblongata10.55
OccipitalLobe10.3
OlfactoryBulb9.4
Ovary7.75
Pancreas9.4
PancreaticIslet12.35
ParietalLobe11.95
Pituitary13.5
Placenta12
Pons11
PrefrontalCortex14.25
Prostate19.55
Salivarygland9.3
SkeletalMuscle13.15
Skin11.15
SmoothMuscle13.15
Spinalcord12.35
SubthalamicNucleus10.5
SuperiorCervicalGanglion12.95
TemporalLobe10.85
Testis9.6
TestisGermCell9.5
TestisIntersitial9.7
TestisLeydigCell11.3
TestisSeminiferousTubule9.95
Thalamus11.65
Thymus13.1
Thyroid14.6
Tongue13.05
Tonsil17.75
Trachea9.75
TrigeminalGanglion11.85
Uterus9.95
UterusCorpus10.3
WholeBlood21.8
Wholebrain9.65
colon11.7
pineal_day13.62
pineal_night13.12
retina14.075
small_intestine11.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10868_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala2.18 ± 0.88
Basal Forebrain1.67 ± 0.23
Basal Part of Pons1.55 ± 0.42
Cerebellar Cortex1.46 ± 0.59
Cerebellar Nuclei2.34 ± 0.78
Claustrum2.16 ± 0.59
Epithalamus2.22 ± 0.64
Frontal Lobe1.73 ± 0.76
Globus Pallidus2.92 ± 1.05
Hypothalamus1.5 ± 0.8
Insula1.46 ± 0.47
Limbic Lobe1.74 ± 0.75
Mesencephalon1.95 ± 0.86
Myelencephalon1.86 ± 0.65
Occipital Lobe1.69 ± 0.7
Parietal Lobe1.59 ± 0.69
Pontine Tegmentum1.76 ± 0.75
Striatum2.18 ± 0.65
Subthalamus2.14 ± 0.72
Temporal Lobe1.73 ± 0.7
Thalamus1.83 ± 0.66
White Matter2.36 ± 1.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ube1lCBCerebellum1.88
2.09
Ube1lCTXCerebral cortex1.85
1.59
Ube1lHIPHippocampal region1.72
1.71
Ube1lHPFHippocampal formation1.29
1.27
Ube1lHYHypothalamus0.18
0.21
Ube1lLSXLateral septal complex0.12
0.08
Ube1lMBMidbrain0.59
0.86
Ube1lMYMedulla2.05
2.45
Ube1lOLFOlfactory bulb3.78
2.97
Ube1lPPons0.63
0.88
Ube1lPALPallidum0.29
0.29
Ube1lRHPRetrohippocampal region0.57
0.68
Ube1lsAMYStriatum-like amygdalar nuclei0.27
0.35
Ube1lSTRStriatum0.36
0.28
Ube1lSTRdStriatum dorsal region0.26
0.22
Ube1lSTRvStriatum ventral region0.79
0.54
Ube1lTHThalamus0.59
0.5
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00025693 11 142 152 HGVCFLAADTR Peptide Atlas
UBA7_HUMAN_616 8 616 623 HEFEELFR PRIDE
UBA7_HUMAN_843 26 843 868 IVGQIIPAIATTTAAVAGLLGLELYK PRIDE

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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